MCID: ANG028
MIFTS: 15

Angioma Serpiginosum, Autosomal Dominant

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Angioma Serpiginosum, Autosomal Dominant

MalaCards integrated aliases for Angioma Serpiginosum, Autosomal Dominant:

Name: Angioma Serpiginosum, Autosomal Dominant 58 54 74
Autosomal Dominant Angioma Serpiginosum 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
onset in childhood
slowly progressive
more common in women (90%)
usually a sporadic disorder
no male-to-male transmission
partially responsive to laser treatment
see also x-linked dominant form


HPO:

33
angioma serpiginosum, autosomal dominant:
Onset and clinical course slow progression juvenile onset
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

OMIM 58 106050
MedGen 43 C1970130
UMLS 74 C1970130

Summaries for Angioma Serpiginosum, Autosomal Dominant

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 95429Disease definitionAngioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.EpidemiologyThe disease occurs almost exclusively in females.EtiologyA mutation in the Xp11.3-Xq12 region has been identified in one of the reported families. However, in this family the AS was associated with oesophageal papillomatosis leading to the suggestion that this case of familial AS represents a mild form of focal dermal hypoplasia (see this term).Genetic counselingThe majority of cases are sporadic. Only a few familial cases have been reported in the literature so far and transmission may be autosomal dominant or X-linked.Visit the Orphanet disease page for more resources.

MalaCards based summary : Angioma Serpiginosum, Autosomal Dominant, is also known as autosomal dominant angioma serpiginosum. Affiliated tissues include skin and endothelial, and related phenotype is hyperkeratosis.

OMIM : 58 Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most often sporadic, although rare families suggestive of autosomal dominant inheritance have been reported (Sandhu and Gupta, 2005). No male-to-male transmission has been described, but father-to-daughter transmissions are known. It has been suggested that the pattern of skin involvement may be due to cutaneous somatic mosaicism (Chen et al., 2006; Blinkenberg et al., 2007). An X-linked dominant form of angioma serpiginosum (300652) has been mapped. The few males described may actually represent somatic mosaicism of an X-linked gene. (106050)

Related Diseases for Angioma Serpiginosum, Autosomal Dominant

Diseases in the Angioma Serpiginosum family:

Angioma Serpiginosum, Autosomal Dominant

Symptoms & Phenotypes for Angioma Serpiginosum, Autosomal Dominant

Human phenotypes related to Angioma Serpiginosum, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 33 HP:0000962

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin Histology:
hyperkeratosis
nests of dilated and thick-walled capillaries in the dermal papillae
inflammation is usually absent

Skin Nails Hair Skin Electron Microscopy:
slit-like protrusion of capillary lumen into the endothelial lining

Skin Nails Hair Skin:
non-purpuric punctate and linear erythematous rash
subepidermal capillary ectasia
lesions often follow blaschko lines
lesions occur on the trunk, back, arms, legs, abdomen, buttocks
extensive cutaneous involvement rarely occurs
more

Clinical features from OMIM:

106050

Drugs & Therapeutics for Angioma Serpiginosum, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Angioma Serpiginosum, Autosomal Dominant

Genetic Tests for Angioma Serpiginosum, Autosomal Dominant

Anatomical Context for Angioma Serpiginosum, Autosomal Dominant

MalaCards organs/tissues related to Angioma Serpiginosum, Autosomal Dominant:

42
Skin, Endothelial

Publications for Angioma Serpiginosum, Autosomal Dominant

Variations for Angioma Serpiginosum, Autosomal Dominant

Cosmic variations for Angioma Serpiginosum, Autosomal Dominant:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM584 NRAS skin,buttock,benign melanocytic nevus,congenital c.182A>G p.Q61R 1:114713908-114713908 0
2 COSM580 NRAS skin,buttock,benign melanocytic nevus,congenital c.181C>A p.Q61K 1:114713909-114713909 0

Expression for Angioma Serpiginosum, Autosomal Dominant

Search GEO for disease gene expression data for Angioma Serpiginosum, Autosomal Dominant.

Pathways for Angioma Serpiginosum, Autosomal Dominant

GO Terms for Angioma Serpiginosum, Autosomal Dominant

Sources for Angioma Serpiginosum, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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